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The Journal of Experimental Medicine|December 16, 2024
A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunityFahd Al Qureshah, Jérémie Le Pen, Nicole A de Weerd, et al.The Journal of Experimental Medicine|November 3, 2022
Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosisMasato Ogishi, Rui Yang, Rémy Rodriguez, et al.American Journal of Human Genetics|July 13, 2022
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcificationsErik Rosenhahn, Thomas J O'Brien, Maha S Zaki, et al.Science Immunology|February 10, 2023
Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteriaQuentin Philippot, Masato Ogishi, Jonathan Bohlen, et al.The Journal of Experimental Medicine|July 5, 2019
Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccinesNicholas Hernandez, Giorgia Bucciol, Leen Moens, et al.Cell|October 24, 2023
Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteriaJonathan Bohlen, Qinhua Zhou, Quentin Philippot, et al.Nature Immunology|April 12, 2024
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiencyHirotsugu Oda, Kalpana Manthiram, Pallavi Pimpale Chavan, et al.Science Immunology|February 27, 2026
Human LFA-1 governs T cell immune surveillance of the skinAhmad Yatim, Leila Youssefian, Aida Idani, et al.Science (New York, N.Y.)|May 19, 2022
Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxinAndrás N Spaan, Anna-Lena Neehus, Emmanuel Laplantine, et al.Cell|May 3, 2024
FLT3L governs the development of partially overlapping hematopoietic lineages in humans and miceMana Momenilandi, Romain Lévy, Steicy Sobrino, et al.Pageof 9